Canonical Allele Identifier: CA367398563
Gene: GCK HGNC NCBI

Linked Data

dbSNP Id: rs2096271394
gnomAD v4: 7-44145565-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44145565C>G , CM000669.2:g.44145565C>G GRCh38
NC_000007.13:g.44185164C>G , CM000669.1:g.44185164C>G GRCh37
NC_000007.12:g.44151689C>G NCBI36
NG_008847.1:g.48859G>C
NG_008847.2:g.57606G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*1183G>C ENSP00000379142.4:n.*1183G>C
ENST00000616242.5:c.*305G>C ENSP00000482149.2:n.*305G>C
ENST00000683378.1:n.411G>C
ENST00000336642.9:c.219G>C ENSP00000338009.5:p.Glu73Asp
ENST00000345378.7:c.1188G>C ENSP00000223366.2:p.Glu396Asp
ENST00000403799.8:c.1185G>C MANE Select ENSP00000384247.3:p.Glu395Asp
ENST00000671824.1:c.1248G>C ENSP00000500264.1:p.Glu416Asp
ENST00000672743.1:n.197G>C
ENST00000673284.1:c.1185G>C ENSP00000499852.1:p.Glu395Asp
ENST00000336642.8:c.237G>C ENSP00000338009.4:p.Glu79Asp
ENST00000345378.6:c.1188G>C ENSP00000223366.2:p.Glu396Asp
ENST00000395796.7:c.1182G>C ENSP00000379142.3:p.Glu394Asp
ENST00000403799.7:c.1185G>C ENSP00000384247.3:p.Glu395Asp
ENST00000437084.1:c.1134G>C ENSP00000402840.1:p.Glu378Asp
ENST00000459642.1:n.565G>C
ENST00000616242.4:c.1182G>C ENSP00000482149.1:p.Glu394Asp
NM_000162.3:c.1185G>C NP_000153.1:p.Glu395Asp
NM_033507.1:c.1188G>C NP_277042.1:p.Glu396Asp
NM_033508.1:c.1182G>C NP_277043.1:p.Glu394Asp
NM_000162.4:c.1185G>C NP_000153.1:p.Glu395Asp
NM_001354800.1:c.1185G>C NP_001341729.1:p.Glu395Asp
NM_001354801.1:c.174G>C NP_001341730.1:p.Glu58Asp
NM_001354802.1:c.45G>C NP_001341731.1:p.Glu15Asp
NM_001354803.1:c.219G>C NP_001341732.1:p.Glu73Asp
NM_033507.2:c.1188G>C NP_277042.1:p.Glu396Asp
NM_033508.2:c.1182G>C NP_277043.1:p.Glu394Asp
XM_024446707.1:c.45G>C XP_024302475.1:p.Glu15Asp
NM_000162.5:c.1185G>C MANE Select NP_000153.1:p.Glu395Asp
NM_033507.3:c.1188G>C NP_277042.1:p.Glu396Asp
NM_033508.3:c.1182G>C NP_277043.1:p.Glu394Asp
NM_001354803.2:c.219G>C NP_001341732.1:p.Glu73Asp